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brachydactyly type A1C (BDA1C) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

brachydactyly type A1C

MONDO:0014032

Also known as:BDA1CGDF5 brachydactyly type A1brachydactyly type A1 caused by mutation in GDF5

Overview

Any brachydactyly type A1 in which the cause of the disease is a mutation in the GDF5 gene.

GeneticsAutosomal recessive, Autosomal dominant · GDF5 (chr 20)

ResearchLimited published research (3 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Brachydactyly, Short middle phalanx of the 4th finger, Short 1st metacarpal, and Short middle phalanx of the 5th finger and others; and common findings: Bilateral talipes equinovarus. 10 total HPO annotations.

Organ System	Phenotype Count	Example Features
Arms and legs	5	Short middle phalanx of the 4th finger, Short middle phalanx of the 5th finger, Short distal phalanx of finger

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

GDF5 encodes growth differentiation factor 5 (501 aa). Growth factor involved in bone and cartilage formation. During cartilage development regulates differentiation of chondrogenic tissue through two pathways. Highest expression in Cells Cultured fibroblasts (7.0 TPM) and Minor Salivary Gland (4.0 TPM).

Brachydactyly type A1C is associated with mutations in the GDF5 gene on chromosome 20.

The GDF5 protein participates in Signaling by BMP pathway.

GDF5 is classified as a druggable target (Druggable Genome, Growth Factor, and Transcription Factor categories) with score 0.0.

Diagnosis

Genetic testing for GDF5 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 6 always present features, 1 common feature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for brachydactyly type A1C.

3 publications have been identified in PubMed for brachydactyly type A1C. Research spans Case Report / Case Series (67%) and Basic Science / Preclinical (33%).

Recent Publications

Zhu T (2025). [PMID: 40606564](https://pubmed.ncbi.nlm.nih.gov/40606564/). *Phenomics*. [Case Report / Case Series]
Díaz-González F (2024). [PMID: 38917024](https://pubmed.ncbi.nlm.nih.gov/38917024/). *Eur J Endocrinol*. [Basic Science / Preclinical]
Chen Y (2024). [PMID: 38840672](https://pubmed.ncbi.nlm.nih.gov/38840672/). *Transl Pediatr*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 9:14 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615072

GARD

Genetic and Rare Diseases Info Center

GARD:15903

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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brachydactyly type A1C

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

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